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Aliases for QKI Gene

Aliases for QKI Gene

  • QKI, KH Domain Containing, RNA Binding 2 3
  • HqkI 3 4
  • QK1 3 6
  • Hqk 3 4
  • Homolog Of Mouse Quaking QKI (KH Domain RNA Binding Protein) 3
  • Quaking Homolog, KH Domain RNA Binding (Mouse) 2
  • Quaking Homolog, KH Domain RNA Binding 3
  • RNA Binding Protein HQK 3
  • Protein Quaking 3
  • QK3 3
  • HKQ 4
  • QK 3

External Ids for QKI Gene

Summaries for QKI Gene

Entrez Gene Summary for QKI Gene

  • The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation and may play a role in schizophrenia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

GeneCards Summary for QKI Gene

QKI (QKI, KH Domain Containing, RNA Binding) is a Protein Coding gene. Diseases associated with QKI include 6q terminal deletion syndrome and schizophrenia. Among its related pathways are Diurnally regulated genes with circadian orthologs. GO annotations related to this gene include RNA binding and SH3 domain binding. An important paralog of this gene is KHDRBS1.

UniProtKB/Swiss-Prot for QKI Gene

  • RNA-binding protein that plays a central role in myelinization. Binds to the 5-NACUAAY-N(1,20)-UAAY-3 RNA core sequence. Acts by regulating pre-mRNA splicing, mRNA export, mRNA stability and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia. Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity).

Gene Wiki entry for QKI Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for QKI Gene

Genomics for QKI Gene

Genomic Location for QKI Gene

Start:
163,414,000 bp from pter
End:
163,578,596 bp from pter
Size:
164,597 bases
Orientation:
Plus strand

Genomic View for QKI Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for QKI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for QKI Gene

Regulatory Elements for QKI Gene

Proteins for QKI Gene

  • Protein details for QKI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PU8-QKI_HUMAN
    Recommended name:
    Protein quaking
    Protein Accession:
    Q96PU8
    Secondary Accessions:
    • Q2I375
    • Q5MJQ1
    • Q969L9
    • Q96EJ3
    • Q96KA3
    • Q96PU6
    • Q96PU7
    • Q9P0X6
    • Q9P0X7
    • Q9P0X8
    • Q9P0X9
    • Q9P0Y0
    • Q9P0Y1

    Protein attributes for QKI Gene

    Size:
    341 amino acids
    Molecular mass:
    37671 Da
    Quaternary structure:
    • Homodimer. Does not require RNA to homodimerize. Able to heterodimerize with BICC1 (By similarity).
    SequenceCaution:
    • Sequence=AAF63412.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=AAF63413.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF63413.1; Type=Miscellaneous discrepancy; Note=Cloning artifact in N-terminus.; Evidence={ECO:0000305}; Sequence=AAF63414.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF63414.1; Type=Miscellaneous discrepancy; Note=Cloning artifact in N-terminus.; Evidence={ECO:0000305}; Sequence=AAF63415.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=AAF63416.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=AAF63417.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF63417.1; Type=Miscellaneous discrepancy; Note=Cloning artifact in N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55032.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for QKI Gene

    Alternative splice isoforms for QKI Gene

neXtProt entry for QKI Gene

Proteomics data for QKI Gene at MOPED

Post-translational modifications for QKI Gene

  • Methylated by PRMT1.
  • Tyrosine phosphorylated at its C-terminus, probably by FYN. Phosphorylation leads to decreased mRNA-binding affinity, affecting transport and/or stabilization of MBP mRNA (By similarity).
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys91

No data available for DME Specific Peptides for QKI Gene

Domains for QKI Gene

Protein Domains for QKI Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for QKI Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96PU8

UniProtKB/Swiss-Prot:

QKI_HUMAN
Domain:
  • Contains 1 KH domain.:
    • Q96PU8
genes like me logo Genes that share domains with QKI: view

No data available for Gene Families for QKI Gene

Function for QKI Gene

Molecular function for QKI Gene

UniProtKB/Swiss-Prot Function: RNA-binding protein that plays a central role in myelinization. Binds to the 5-NACUAAY-N(1,20)-UAAY-3 RNA core sequence. Acts by regulating pre-mRNA splicing, mRNA export, mRNA stability and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia. Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity).

Gene Ontology (GO) - Molecular Function for QKI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding --
GO:0003729 mRNA binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with QKI: view
genes like me logo Genes that share phenotypes with QKI: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for QKI Gene

Localization for QKI Gene

Subcellular locations from UniProtKB/Swiss-Prot for QKI Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for QKI Gene COMPARTMENTS Subcellular localization image for QKI gene
Compartment Confidence
nucleus 3
cytosol 2
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for QKI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with QKI: view

Pathways for QKI Gene

genes like me logo Genes that share pathways with QKI: view

Pathways by source for QKI Gene

1 BioSystems pathway for QKI Gene

Gene Ontology (GO) - Biological Process for QKI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis IEA --
GO:0006397 mRNA processing IEA --
GO:0006417 regulation of translation IEA --
GO:0007286 spermatid development IEA --
GO:0008366 axon ensheathment --
genes like me logo Genes that share ontologies with QKI: view

Transcripts for QKI Gene

Unigene Clusters for QKI Gene

QKI, KH domain containing, RNA binding:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for QKI Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b
SP1: - - - - -
SP2: - -
SP3: - - -
SP4: - - - -
SP5: - - - - -
SP6: - - - - -
SP7: -
SP8:
SP9:
SP10:

Relevant External Links for QKI Gene

GeneLoc Exon Structure for
QKI
ECgene alternative splicing isoforms for
QKI

Expression for QKI Gene

mRNA expression in normal human tissues for QKI Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for QKI Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for QKI Gene

SOURCE GeneReport for Unigene cluster for QKI Gene Hs.510324

mRNA Expression by UniProt/SwissProt for QKI Gene

Q96PU8-QKI_HUMAN
Tissue specificity: Expressed in the frontal cortex of brain. Down-regulated in the brain of schizophrenic patients.
genes like me logo Genes that share expressions with QKI: view

Orthologs for QKI Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for QKI Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia QKI 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia QKI 35
  • 95.8 (n)
  • 100 (a)
QKI 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia QKI 35
  • 96.77 (n)
  • 100 (a)
QKI 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Qk 35
  • 96.38 (n)
  • 100 (a)
Qk 16
Qk 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia QKI 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia QKI 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Qk 35
  • 95.5 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves QKI 35
  • 92.55 (n)
  • 99.12 (a)
QKI 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia QKI 36
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33570 35
tropical clawed frog
(Silurana tropicalis)
Amphibia qki 35
  • 84.73 (n)
  • 94.84 (a)
Str.3106 35
zebrafish
(Danio rerio)
Actinopterygii qkib 35
  • 80.3 (n)
  • 95.52 (a)
qkib 36
  • 89 (a)
OneToOne
zgc65890 35
fruit fly
(Drosophila melanogaster)
Insecta how 36
  • 40 (a)
OneToOne
how 37
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea asd-2 36
  • 31 (a)
OneToMany
gld-1 36
  • 28 (a)
OneToMany
gld-1 37
  • 54 (a)
T21G5.5 37
  • 63 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSL5 36
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToOne
Species with no ortholog for QKI:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for QKI Gene

ENSEMBL:
Gene Tree for QKI (if available)
TreeFam:
Gene Tree for QKI (if available)

Paralogs for QKI Gene

Paralogs for QKI Gene

Selected SIMAP similar genes for QKI Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with QKI: view

Variants for QKI Gene

Sequence variations from dbSNP and Humsavar for QKI Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs140777 -- 163,444,552(-) TTTTA(-/ATTA/TTAA)NNNGA intron-variant
rs140781 -- 163,421,564(-) CTCAA(-/TCAA)ATACA intron-variant
rs140782 -- 163,466,455(+) GAGAA(-/AGAA)CAAAG intron-variant
rs715020 -- 163,565,450(-) TCTTA(C/T)TCATT intron-variant, utr-variant-3-prime, nc-transcript-variant
rs721190 -- 163,499,085(-) GTGTA(A/G)AACTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for QKI Gene

Variant ID Type Subtype PubMed ID
esv26812 CNV Loss 19812545
nsv523664 CNV Gain 19592680
esv2750737 CNV Loss 17666407
nsv524205 CNV Loss 19592680
esv2675455 CNV Deletion 23128226
dgv2031e1 CNV Complex 17122850

Relevant External Links for QKI Gene

HapMap Linkage Disequilibrium report
QKI
Human Gene Mutation Database (HGMD)
QKI

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for QKI Gene

Disorders for QKI Gene

(1) University of Copenhagen DISEASES for QKI Gene

Relevant External Links for QKI

Genetic Association Database (GAD)
QKI
Human Genome Epidemiology (HuGE) Navigator
QKI
genes like me logo Genes that share disorders with QKI: view

No data available for UniProtKB/Swiss-Prot for QKI Gene

Publications for QKI Gene

  1. Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. (PMID: 18615156) Liu C. … Gregersen P.K. (Mol. Med. 2008) 3 48
  2. No association found between the promoter variations of QKI and schizophrenia in the Chinese population. (PMID: 18938205) Huang K. … Shi Y. (Prog. Neuropsychopharmacol. Biol. Psychiatry 2009) 3 48
  3. Characterization of QKI gene expression, genetics, and epigenetics in suicide victims with major depressive disorder. (PMID: 19545858) Klempan T.A. … Turecki G. (Biol. Psychiatry 2009) 3 23
  4. The STAR protein QKI-6 is a translational repressor. (PMID: 10535969) Saccomanno L. … Goodwin E.B. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3
  5. Expression of Hqk encoding a KH RNA binding protein is altered in human glioma. (PMID: 11856480) Li Z.Z. … Abe K. (Jpn. J. Cancer Res. 2002) 3 4

Products for QKI Gene

  • Addgene plasmids for QKI

Sources for QKI Gene

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